ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys)

gnomAD frequency: 0.00001  dbSNP: rs373058706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607617 SCV000710886 likely pathogenic Rare genetic deafness 2016-05-02 criteria provided, single submitter clinical testing The p.Glu104Lys variant in TMPRSS3 has been reported in the homozygous state in 1 Pakistani individual with hearing loss and segregated in 6 affected relatives whose parents were consanguineous (Lee 2012). This variant has been identified i n 2/66672 of European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs373058706); however, its frequency is low e nough to be consistent with a recessive carrier frequency. In summary, although additional studies are required to fully establish its clinical significance, t his variant is likely pathogenic for autosomal recessive nonsyndromic hearing lo ss.
The Shared Resource Centre "Genome", Research Centre for Medical Genetics RCV002461909 SCV002756437 pathogenic Autosomal recessive nonsyndromic hearing loss 8 2022-11-10 criteria provided, single submitter clinical testing

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